A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2590571



Internal ID8307444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45473117..45474573hg38UCSC Ensembl
Outerchr2:45700256..45701712hg19UCSC Ensembl
Outerchr2:45553760..45555216hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381457
hg191457
hg181457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5229344
SamplesNA18507
Known GenesSRBD1
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2590571
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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